MAFA — 90 ClinVar variants
All ClinVar germline MAFA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 8 Benign · 12 Likely benign · 68 Uncertain significance
Full MAFA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 60
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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MAFA p.Ala211Thr
Uncertain significance
Multiple submitters
islet cell adenomatosis
-
MAFA p.Ala138Glu
Uncertain significance
Single submitter
islet cell adenomatosis
- MAFA p.Ala159Val Uncertain significance Single submitter
- MAFA p.Ala182Gly Uncertain significance Single submitter
- MAFA p.Arg259Pro Uncertain significance Single submitter
- MAFA p.Arg275Gln Uncertain significance Single submitter
- MAFA p.Asp178Gly Uncertain significance Single submitter
- MAFA p.Gln292Arg Uncertain significance Single submitter
- MAFA p.Gly173Ser Uncertain significance Single submitter
- MAFA p.Gly174Asp Uncertain significance Single submitter
- MAFA p.Gly215Ser Uncertain significance Single submitter
- MAFA p.Gly218Val Uncertain significance Single submitter
- MAFA p.Gly322Val Uncertain significance Single submitter
- MAFA p.Gly324Val Uncertain significance Single submitter
- MAFA p.Gly79Ser Uncertain significance Single submitter
- MAFA p.Gly85Ser Uncertain significance Single submitter
- MAFA p.Gly86Ser Uncertain significance Single submitter
- MAFA p.Gly92Ala Uncertain significance Single submitter
- MAFA p.Gly92Asp Uncertain significance Single submitter
- MAFA p.Gly99Ala Uncertain significance Single submitter
- MAFA p.His184Tyr Uncertain significance Single submitter
- MAFA p.Ile281Val Uncertain significance Single submitter
- MAFA p.Leu126Val Uncertain significance Single submitter
- MAFA p.Leu133Arg Uncertain significance Single submitter
- MAFA p.Leu240Val Uncertain significance Single submitter
- MAFA p.Leu5Val Uncertain significance Single submitter
- MAFA p.Lys249Asn Uncertain significance Single submitter
-
MAFA p.Lys256Thr
Uncertain significance
Single submitter
juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
-
MAFA p.Phe41Val
Uncertain significance
Single submitter
islet cell adenomatosis
- MAFA p.Pro101Thr Uncertain significance Single submitter
- MAFA p.Pro157Ser Uncertain significance Single submitter
- MAFA p.Pro157Thr Uncertain significance Single submitter
- MAFA p.Pro97Ala Uncertain significance Single submitter
-
MAFA p.Ser61Phe
Uncertain significance
Single submitter
islet cell adenomatosis
- MAFA p.Ser98Asn Uncertain significance Single submitter
- MAFA p.Tyr310His Uncertain significance Single submitter
- MAFA p.Val233Leu Uncertain significance Single submitter
Predictors split 23
The independent predictors disagree with each other — read with care.
-
MAFA p.Arg333Trp
Uncertain significance
Multiple submitters
osteopetrosis, autosomal dominant 3
- MAFA p.Ala158Glu Uncertain significance Single submitter
- MAFA p.Ala17Thr Uncertain significance Single submitter
- MAFA p.Ala198Asp Uncertain significance Single submitter
- MAFA p.Arg40Gly Uncertain significance Single submitter
- MAFA p.Asp115Asn Uncertain significance Single submitter
- MAFA p.Cys69Arg Uncertain significance Single submitter
- MAFA p.Glu129Lys Uncertain significance Single submitter
- MAFA p.Glu39Lys Uncertain significance Single submitter
- MAFA p.Gly173Arg Uncertain significance Single submitter
- MAFA p.Gly218Arg Uncertain significance Single submitter
- MAFA p.His151Gln Uncertain significance Single submitter
- MAFA p.His151Tyr Benign Single submitter
- MAFA p.His195Tyr Uncertain significance Single submitter
- MAFA p.His207Gln Uncertain significance Single submitter
- MAFA p.Ile143Val Uncertain significance Single submitter
- MAFA p.Ile253Met Uncertain significance Single submitter
- MAFA p.Met119Ile Uncertain significance Single submitter
- MAFA p.Phe351Leu Uncertain significance Single submitter
- MAFA p.Pro128Ser Uncertain significance Single submitter
- MAFA p.Ser14Asn Uncertain significance Single submitter
- MAFA p.Val21Ile Uncertain significance Single submitter
- MAFA p.Val293Leu Uncertain significance Single submitter
All MAFA variants
Pathogenic 1
- p.Thr57Arg Single submitter islet cell adenomatosis
Likely pathogenic 1
- p.Ser64Phe Single submitter islet cell adenomatosis
Benign 8
- p.Gly266Cys Single submitter islet cell adenomatosis
- p.His151Tyr Single submitter ⚠
- p.Gly347Cys No assertion criteria MAFA-related disorder
- p.His194= No assertion criteria MAFA-related disorder
- p.His207_His208del No assertion criteria MAFA-related disorder
- p.Leu131= No assertion criteria MAFA-related disorder
- p.Lys274= No assertion criteria MAFA-related disorder
- p.Ser236= No assertion criteria
Likely benign 12
- p.149GAHH[1] Single submitter
- p.Ala154= Single submitter
- p.Glu306= Single submitter
- p.Gly80del Single submitter
- p.Pro169Gln Single submitter
- p.Pro342= Single submitter
- p.Ser72= Single submitter
- p.Ser87Ala Single submitter
- p.Ser88Ala Single submitter
- p.Thr107Ala Single submitter
- c.*2C>T No assertion criteria MAFA-related disorder
- p.Leu289= No assertion criteria MAFA-related disorder
Uncertain significance 68
- p.Ala211Thr Multiple submitters islet cell adenomatosis ⚠
- p.Arg333Trp Multiple submitters osteopetrosis, autosomal dominant 3 ⚠
- p.Arg44His Multiple submitters
- p.Ala138Glu Single submitter islet cell adenomatosis ⚠
- p.Ala158Glu Single submitter ⚠
- p.Ala159Val Single submitter ⚠
- p.Ala17Thr Single submitter ⚠
- p.Ala182Gly Single submitter ⚠
- p.Ala198Asp Single submitter ⚠
- p.Ala70Thr Single submitter
- p.Arg259Pro Single submitter ⚠
- p.Arg275Gln Single submitter ⚠
- p.Arg40Gly Single submitter ⚠
- p.Asp115Asn Single submitter ⚠
- p.Asp178Gly Single submitter ⚠
- p.Cys69Arg Single submitter ⚠
- p.Gln292Arg Single submitter ⚠
- p.Glu129Gln Single submitter
- p.Glu129Lys Single submitter ⚠
- p.Glu39Lys Single submitter ⚠
- p.Gly173Arg Single submitter ⚠
- p.Gly173Ser Single submitter ⚠
- p.Gly174Asp Single submitter ⚠
- p.Gly215Ser Single submitter ⚠
- p.Gly218Arg Single submitter ⚠
- p.Gly218Asp Single submitter
- p.Gly218Val Single submitter ⚠
- p.Gly322Val Single submitter ⚠
- p.Gly324Val Single submitter ⚠
- p.Gly78Arg Single submitter
- p.Gly79Ser Single submitter ⚠
- p.Gly85Ser Single submitter ⚠
- p.Gly86Ser Single submitter ⚠
- p.Gly8Asp Single submitter
- p.Gly92Ala Single submitter ⚠
- p.Gly92Asp Single submitter ⚠
- p.Gly99Ala Single submitter ⚠
- p.His151Gln Single submitter ⚠
- p.His184Tyr Single submitter ⚠
- p.His195Tyr Single submitter ⚠
- p.His206_His208del Single submitter islet cell adenomatosis
- p.His207Gln Single submitter ⚠
- p.Ile143Val Single submitter ⚠
- p.Ile253Met Single submitter ⚠
- p.Ile281Val Single submitter ⚠
- p.Leu126Val Single submitter ⚠
- p.Leu133Arg Single submitter ⚠
- p.Leu240Val Single submitter ⚠
- p.Leu5Val Single submitter ⚠
- p.Lys249Asn Single submitter ⚠
- p.Lys256Thr Single submitter juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome ⚠
- p.Met119Ile Single submitter ⚠
- p.Phe351Leu Single submitter ⚠
- p.Phe41Val Single submitter islet cell adenomatosis ⚠
- p.Pro101Thr Single submitter ⚠
- p.Pro128Ser Single submitter ⚠
- p.Pro157Ser Single submitter ⚠
- p.Pro157Thr Single submitter ⚠
- p.Pro97Ala Single submitter ⚠
- p.Ser14Asn Single submitter ⚠
- p.Ser61Phe Single submitter islet cell adenomatosis ⚠
- p.Ser98Arg Single submitter
- p.Ser98Asn Single submitter ⚠
- p.Tyr310His Single submitter ⚠
- p.Val21Ile Single submitter ⚠
- p.Val233Leu Single submitter ⚠
- p.Val293Leu Single submitter ⚠
- p.Ala197_His203del No assertion criteria MAFA-related disorder